Endoperspectives, Volume 3, Issue 2
نویسنده
چکیده
Hereditary medullary thyroid carcinoma (MTC) presents within the context of 3 genetic syndromes. Multiple endocrine neoplasia type 2A (MEN2A, Sipple’s syndrome) is an autosomal-dominant genetic syndrome that includes MTC, pheochromocytoma, and primary hyperparathyroidism (PHPT). MEN2B is an autosomal-dominant genetic syndrome that includes MTC, pheochromocytoma, multiple mucosal neuromas, and a marfanoid habitus. Familial medullary thyroid carcinoma (FMTC) refers to a variant of MEN2A in which MTC is the only clinical manifestation. These hereditary syndromes are uncommon; probably fewer than 1500 kindreds are recognized worldwide. MEN2 is estimated to affect 1 out of every 30,000-50,000 people. MEN2A is more common than FMTC, while MEN2B is the least common hereditary syndrome of the three.
منابع مشابه
Endoperspectives, Volume 5, Issue 3
The World Health Organization defines pheochromocytoma (PHEO) as a tumor arising from the adrenal medulla and paraganglioma (PGL) as a tumor arising from the paraganglia outside the adrenal medulla. PGLs are located in the head, neck, thorax, abdomen, and pelvis, and can be classified as parasympathetic and sympathetic depending on their origin. Parasympathetic PGLs are mainly located in the he...
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